Results 1 -
10
of
13
for
"Cone-rod" dystrophy hearing loss 1
- ... characterized by the combination of vision loss and hearing loss beginning early in life. ... of the retina (retinopathies). It is estimated to affect 1 in 3,500 to 1 in 4,000 ...
- ... By middle age, most affected individuals have profound hearing loss. Vision loss ... genetic mutations resulting in type 1 Usher syndrome are more common among people of ...
- ... WITHOUT DEAFNESS; RPSRDF RETINITIS PIGMENTOSA GTPase REGULATOR; RPGR CONE-ROD DYSTROPHY, X-LINKED, 1; CORDX1 NCBI Gene ClinVar Ayyagari R, Demirci FY, ...
- ... Usher syndrome type IIA, while other mutations cause retinitis pigmentosa without hearing loss. More About This Health Condition US2 USH2 USH2A_ ...
- ... some individuals who were thought to have nonsyndromic hearing loss developed retinitis pigmentosa (a vision disorder characteristic of Usher syndrome) later ...
- ... development and function of stereocilia, which leads to hearing loss and difficulty with balance and coordination. A lack of this protein in the retina causes retinitis pigmentosa, a condition in which light-sensing cells of ...
- ... 1):16-22. doi: 10.1136/jnnp.63.1.16. Citation on PubMed or Free article on PubMed Central
- ... EM, Slusarski DC. Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis. Hum Mol Genet. 2016 Jan 1;25(1):44-56. doi: 10.1093/hmg/ ...
- ... This Health Condition MedlinePlus Genetics provides information about Retinitis pigmentosa More About This Health Condition USH3 USH3A USH3A_HUMAN Usher syndrome 3A Usher syndrome type 3 protein Tests of CLRN1 PubMed CLARIN 1; CLRN1 NCBI Gene ClinVar Adato A, Vreugde S, ...
- ... J Med Genet A. 2005 Feb 15;133A(1):71-7. doi: 10.1002/ajmg.a.30524. Citation on PubMed Bottger EC, Schacht J. The mitochondrion: a perpetrator of acquired hearing loss. Hear Res. 2013 Sep;303:12-9. doi: ...